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1st NM
Convention 2004
Speakers Notes
Copies of the Speakers notes can be emailed in Adobe .pdf format.
Please email your request to davidmcd_@hotmail.com
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Speaker
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Title
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Summary
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Dr. Carina Wallgren-Pettersson
Consultant in Medical Genetics, Department of Medical Genetics, University of Helsinki & Folkhälsan. |
Nemaline Myopathy:
Overview and Medical Care |
This presentation will cover a general overview of nemaline myopathy, both clinical and genetic aspects; and the medical care of persons with nemaline myopathy, including ventilatory monitoring and support. |
| Dr. Carina Wallgren-Pettersson Consultant in Medical Genetics, Department of Medical Genetics, University of Helsinki & Folkhälsan. |
Research into nemaline myopathy
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This presentation includes the international scientific consortium working on nemaline myopathy: Dr. Wallgren-Pettersson’s group and research, as well as other research groups. Forms will also be circulated for those participants considering giving blood samples for research. |
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Dr. Kristen Nowak
Centre for Neuromuscular & Neurological Disorders, Australian Neuromuscular Research Institute; Centre for Medical Research, Western Australian Institute for Medical Research. |
Towards a Therapy for Nemaline Myopathy:
The Various Approaches Not yet available |
Many different approaches are being investigated for the treatment of neuromuscular disorders, with most emphasis in the field being focused towards Duchenne muscular dystrophy, the most common muscular dystrophy. This presentation will explain the various strategies currently being explored, and the recent advances in the field. Moreover, there will be a discussion of which of these approaches may be applicable as potential therapies for nemaline myopathy. Finally, an insight into the studies of Prof Nigel Laing's Laboratory will be given, with particular focus on the pursuit of a therapeutic approach called "upregulation therapy." |
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Ms. Nicole Dexter
Genetic Counsellor - Prenatal Diagnostic Unit, Vincent Obstetrics, Massachusetts General Hospital. |
Nemaline Myopathy: |
This presentation will be a review of the genetics of nemaline myopathy; and cover the process of genetic testing, outlining the benefits and limitations of the current testing options. Topics will include: 1) A review of modes of inheritance and associated risks to family members/offspring; 2) Genetic testing, including carrier testing vs. diagnostic testing, research vs. clinical testing, and prenatal testing options; 3) Implications for family members - Who is at risk? What does it all mean? and 4) Resources. |
| Dr. Heakyung Kim Medical Director, Pediatric Rehabilitation Medicine, The Childrens Hospital of Philadelphia, University of Pennsylvania. |
Noninvasive Mechanical Ventilation of Neuromuscular
Disorders
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